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X-linked intellectual disability-psychosis-macroorchidism syndrome

Synonym(s) Lindsay-Burn syndrome
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
Age of onset Childhood
  • F71.1
MeSH -
MedDRA -


This syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

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